SNP Links for Gene (Select 102723099) - SNP

Links from Gene

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Select item 14903070731.

rs1490307073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:148988473 (GRCh38)
7:148685565 (GRCh37)
Canonical SPDI:: NC_000007.14:148988472:T:C
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.148988473T>C, NC_000007.13:g.148685565T>C, NR_130107.1:n.947T>C

Select item 14894430562.

rs1489443056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:148987908 (GRCh38)
7:148685000 (GRCh37)
Canonical SPDI:: NC_000007.14:148987907:G:A,NC_000007.14:148987907:G:C
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.148987908G>A, NC_000007.14:g.148987908G>C, NC_000007.13:g.148685000G>A, NC_000007.13:g.148685000G>C, NR_130107.1:n.382G>A, NR_130107.1:n.382G>C

Select item 14875439903.

rs1487543990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:148987505 (GRCh38)
7:148684597 (GRCh37)
Canonical SPDI:: NC_000007.14:148987504:C:G,NC_000007.14:148987504:C:T
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.148987505C>G, NC_000007.14:g.148987505C>T, NC_000007.13:g.148684597C>G, NC_000007.13:g.148684597C>T

Select item 14869674144.

rs1486967414 has merged into rs58650856 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:148986790 (GRCh38)
7:148683882 (GRCh37)
Canonical SPDI:: NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.148986790_148986806del, NC_000007.14:g.148986791_148986806del, NC_000007.14:g.148986792_148986806del, NC_000007.14:g.148986793_148986806del, NC_000007.14:g.148986794_148986806del, NC_000007.14:g.148986795_148986806del, NC_000007.14:g.148986796_148986806del, NC_000007.14:g.148986797_148986806del, NC_000007.14:g.148986798_148986806del, NC_000007.14:g.148986799_148986806del, NC_000007.14:g.148986800_148986806del, NC_000007.14:g.148986801_148986806del, NC_000007.14:g.148986802_148986806del, NC_000007.14:g.148986803_148986806del, NC_000007.14:g.148986804_148986806del, NC_000007.14:g.148986805_148986806del, NC_000007.14:g.148986806del, NC_000007.14:g.148986806dup, NC_000007.14:g.148986805_148986806dup, NC_000007.14:g.148986804_148986806dup, NC_000007.14:g.148986803_148986806dup, NC_000007.14:g.148986802_148986806dup, NC_000007.14:g.148986801_148986806dup, NC_000007.14:g.148986800_148986806dup, NC_000007.14:g.148986799_148986806dup, NC_000007.14:g.148986798_148986806dup, NC_000007.14:g.148986797_148986806dup, NC_000007.14:g.148986796_148986806dup, NC_000007.14:g.148986793_148986806dup, NC_000007.14:g.148986792_148986806dup, NC_000007.14:g.148986791_148986806dup, NC_000007.14:g.148986790_148986806dup, NC_000007.14:g.148986789_148986806dup, NC_000007.14:g.148986787_148986806dup, NC_000007.14:g.148986786_148986806dup, NC_000007.14:g.148986785_148986806dup, NC_000007.14:g.148986781_148986806dup, NC_000007.14:g.148986806_148986807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.148683882_148683898del, NC_000007.13:g.148683883_148683898del, NC_000007.13:g.148683884_148683898del, NC_000007.13:g.148683885_148683898del, NC_000007.13:g.148683886_148683898del, NC_000007.13:g.148683887_148683898del, NC_000007.13:g.148683888_148683898del, NC_000007.13:g.148683889_148683898del, NC_000007.13:g.148683890_148683898del, NC_000007.13:g.148683891_148683898del, NC_000007.13:g.148683892_148683898del, NC_000007.13:g.148683893_148683898del, NC_000007.13:g.148683894_148683898del, NC_000007.13:g.148683895_148683898del, NC_000007.13:g.148683896_148683898del, NC_000007.13:g.148683897_148683898del, NC_000007.13:g.148683898del, NC_000007.13:g.148683898dup, NC_000007.13:g.148683897_148683898dup, NC_000007.13:g.148683896_148683898dup, NC_000007.13:g.148683895_148683898dup, NC_000007.13:g.148683894_148683898dup, NC_000007.13:g.148683893_148683898dup, NC_000007.13:g.148683892_148683898dup, NC_000007.13:g.148683891_148683898dup, NC_000007.13:g.148683890_148683898dup, NC_000007.13:g.148683889_148683898dup, NC_000007.13:g.148683888_148683898dup, NC_000007.13:g.148683885_148683898dup, NC_000007.13:g.148683884_148683898dup, NC_000007.13:g.148683883_148683898dup, NC_000007.13:g.148683882_148683898dup, NC_000007.13:g.148683881_148683898dup, NC_000007.13:g.148683879_148683898dup, NC_000007.13:g.148683878_148683898dup, NC_000007.13:g.148683877_148683898dup, NC_000007.13:g.148683873_148683898dup, NC_000007.13:g.148683898_148683899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14869378365.

rs1486937836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:148987208 (GRCh38)
7:148684300 (GRCh37)
Canonical SPDI:: NC_000007.14:148987207:T:C,NC_000007.14:148987207:T:G
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.148987208T>C, NC_000007.14:g.148987208T>G, NC_000007.13:g.148684300T>C, NC_000007.13:g.148684300T>G, NR_004391.1:n.41A>G, NR_004391.1:n.41A>C

Select item 14858646076.

rs1485864607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:148987116 (GRCh38)
7:148684208 (GRCh37)
Canonical SPDI:: NC_000007.14:148987115:A:C,NC_000007.14:148987115:A:G
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.148987116A>C, NC_000007.14:g.148987116A>G, NC_000007.13:g.148684208A>C, NC_000007.13:g.148684208A>G

Select item 14849604807.

rs1484960480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:148987681 (GRCh38)
7:148684773 (GRCh37)
Canonical SPDI:: NC_000007.14:148987680:G:C,NC_000007.14:148987680:G:T
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.148987681G>C, NC_000007.14:g.148987681G>T, NC_000007.13:g.148684773G>C, NC_000007.13:g.148684773G>T, NR_130107.1:n.155G>C, NR_130107.1:n.155G>T

Select item 14848819058.

rs1484881905 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:148986485 (GRCh38)
7:148683578 (GRCh37)
Canonical SPDI:: NC_000007.14:148986485:AAAAAAA:AAAAAAAA
Gene:: GHET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.000071/1 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000045/12 (TOPMED)
A=0.001345/23 (TOMMO)
HGVS:: NC_000007.14:g.148986492dup, NC_000007.13:g.148683584dup

Select item 14846783009.

rs1484678300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:148986500 (GRCh38)
7:148683592 (GRCh37)
Canonical SPDI:: NC_000007.14:148986499:C:T
Gene:: GHET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.148986500C>T, NC_000007.13:g.148683592C>T

Select item 148187893210.

rs1481878932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:148986647 (GRCh38)
7:148683739 (GRCh37)
Canonical SPDI:: NC_000007.14:148986646:C:T
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000007.14:g.148986647C>T, NC_000007.13:g.148683739C>T

Select item 148136631711.

rs1481366317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:148989180 (GRCh38)
7:148686272 (GRCh37)
Canonical SPDI:: NC_000007.14:148989179:T:C
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.148989180T>C, NC_000007.13:g.148686272T>C, NR_130107.1:n.1654T>C

Select item 148072042912.

rs1480720429 has merged into rs58650856 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:148986790 (GRCh38)
7:148683882 (GRCh37)
Canonical SPDI:: NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:148986779:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.148986790_148986806del, NC_000007.14:g.148986791_148986806del, NC_000007.14:g.148986792_148986806del, NC_000007.14:g.148986793_148986806del, NC_000007.14:g.148986794_148986806del, NC_000007.14:g.148986795_148986806del, NC_000007.14:g.148986796_148986806del, NC_000007.14:g.148986797_148986806del, NC_000007.14:g.148986798_148986806del, NC_000007.14:g.148986799_148986806del, NC_000007.14:g.148986800_148986806del, NC_000007.14:g.148986801_148986806del, NC_000007.14:g.148986802_148986806del, NC_000007.14:g.148986803_148986806del, NC_000007.14:g.148986804_148986806del, NC_000007.14:g.148986805_148986806del, NC_000007.14:g.148986806del, NC_000007.14:g.148986806dup, NC_000007.14:g.148986805_148986806dup, NC_000007.14:g.148986804_148986806dup, NC_000007.14:g.148986803_148986806dup, NC_000007.14:g.148986802_148986806dup, NC_000007.14:g.148986801_148986806dup, NC_000007.14:g.148986800_148986806dup, NC_000007.14:g.148986799_148986806dup, NC_000007.14:g.148986798_148986806dup, NC_000007.14:g.148986797_148986806dup, NC_000007.14:g.148986796_148986806dup, NC_000007.14:g.148986793_148986806dup, NC_000007.14:g.148986792_148986806dup, NC_000007.14:g.148986791_148986806dup, NC_000007.14:g.148986790_148986806dup, NC_000007.14:g.148986789_148986806dup, NC_000007.14:g.148986787_148986806dup, NC_000007.14:g.148986786_148986806dup, NC_000007.14:g.148986785_148986806dup, NC_000007.14:g.148986781_148986806dup, NC_000007.14:g.148986806_148986807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.148683882_148683898del, NC_000007.13:g.148683883_148683898del, NC_000007.13:g.148683884_148683898del, NC_000007.13:g.148683885_148683898del, NC_000007.13:g.148683886_148683898del, NC_000007.13:g.148683887_148683898del, NC_000007.13:g.148683888_148683898del, NC_000007.13:g.148683889_148683898del, NC_000007.13:g.148683890_148683898del, NC_000007.13:g.148683891_148683898del, NC_000007.13:g.148683892_148683898del, NC_000007.13:g.148683893_148683898del, NC_000007.13:g.148683894_148683898del, NC_000007.13:g.148683895_148683898del, NC_000007.13:g.148683896_148683898del, NC_000007.13:g.148683897_148683898del, NC_000007.13:g.148683898del, NC_000007.13:g.148683898dup, NC_000007.13:g.148683897_148683898dup, NC_000007.13:g.148683896_148683898dup, NC_000007.13:g.148683895_148683898dup, NC_000007.13:g.148683894_148683898dup, NC_000007.13:g.148683893_148683898dup, NC_000007.13:g.148683892_148683898dup, NC_000007.13:g.148683891_148683898dup, NC_000007.13:g.148683890_148683898dup, NC_000007.13:g.148683889_148683898dup, NC_000007.13:g.148683888_148683898dup, NC_000007.13:g.148683885_148683898dup, NC_000007.13:g.148683884_148683898dup, NC_000007.13:g.148683883_148683898dup, NC_000007.13:g.148683882_148683898dup, NC_000007.13:g.148683881_148683898dup, NC_000007.13:g.148683879_148683898dup, NC_000007.13:g.148683878_148683898dup, NC_000007.13:g.148683877_148683898dup, NC_000007.13:g.148683873_148683898dup, NC_000007.13:g.148683898_148683899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148058373413.

rs1480583734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:148986130 (GRCh38)
7:148683222 (GRCh37)
Canonical SPDI:: NC_000007.14:148986129:T:A,NC_000007.14:148986129:T:C,NC_000007.14:148986129:T:G
Gene:: GHET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.148986130T>A, NC_000007.14:g.148986130T>C, NC_000007.14:g.148986130T>G, NC_000007.13:g.148683222T>A, NC_000007.13:g.148683222T>C, NC_000007.13:g.148683222T>G

Select item 148035065714.

rs1480350657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:148989764 (GRCh38)
7:148686856 (GRCh37)
Canonical SPDI:: NC_000007.14:148989763:G:A
Gene:: GHET1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.148989764G>A, NC_000007.13:g.148686856G>A

Select item 147952131315.

rs1479521313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:148986816 (GRCh38)
7:148683908 (GRCh37)
Canonical SPDI:: NC_000007.14:148986815:G:A,NC_000007.14:148986815:G:T
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.1256/367 (KOREAN)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.148986816G>A, NC_000007.14:g.148986816G>T, NC_000007.13:g.148683908G>A, NC_000007.13:g.148683908G>T

Select item 147833964516.

rs1478339645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:148985769 (GRCh38)
7:148682861 (GRCh37)
Canonical SPDI:: NC_000007.14:148985768:A:C,NC_000007.14:148985768:A:T
Gene:: GHET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.148985769A>C, NC_000007.14:g.148985769A>T, NC_000007.13:g.148682861A>C, NC_000007.13:g.148682861A>T

Select item 147813497917.

rs1478134979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:148987463 (GRCh38)
7:148684555 (GRCh37)
Canonical SPDI:: NC_000007.14:148987462:G:C
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.148987463G>C, NC_000007.13:g.148684555G>C

Select item 147809396018.

rs1478093960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:148988052 (GRCh38)
7:148685144 (GRCh37)
Canonical SPDI:: NC_000007.14:148988051:G:C
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.148988052G>C, NC_000007.13:g.148685144G>C, NR_130107.1:n.526G>C

Select item 147756852319.

rs1477568523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:148989794 (GRCh38)
7:148686886 (GRCh37)
Canonical SPDI:: NC_000007.14:148989793:C:T
Gene:: GHET1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.148989794C>T, NC_000007.13:g.148686886C>T

Select item 147746973620.

rs1477469736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:148987321 (GRCh38)
7:148684413 (GRCh37)
Canonical SPDI:: NC_000007.14:148987320:G:C
Gene:: RNY1 (Varview), GHET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.148987321G>C, NC_000007.13:g.148684413G>C

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